Coexistence of a Heterozygous Caveolin-3 Deletion and a Novel Dystrophin Gene Mutation in a Duchenne Muscular Dystrophy Patient.

Inherited muscular abnormalities are debilitating disorders that greatly diminish the quality of life in affected individuals. Mutations in proteins such as dystrophin and caveolin, which together with other proteins form structural connections between the cytoskeleton and the extracellular matrix, are frequently the culprit of muscular dystrophies. In this case report, we describe a patient with a novel pathogenic dystrophin mutation co-existing with a caveolin-3 deletion. While genetically composed of this unique combination, the patient phenotypically presented with a primary clinical manifestation of Duchenne muscular dystrophy (DMD) in contrast to other cases of dual mutations in dystrophin and dystrophin-associated proteins.

The Spectrum of Acute Cerebrovascular Disease in Patients with COVID-19.

(1) Background: COVID-19 infection is responsible for the ongoing pandemic and acute cerebrovascular disease (CVD) has been observed in COVID-19 patients. (2) Methods: We conducted a retrospective, observational study of hospitalized adult patients admitted to our hospital with SARS-CoV-2 and acute cerebrovascular disease. All clinical data were reviewed including epidemiology, clinical features, laboratory data, neuroradiological findings, hospital management and course from 32 patients hospitalized for COVID-19 management with acute cerebrovascular disease. (3) Results: Acute CVD with COVID-19 was associated with higher NIH stroke scale on discharge compared to non-COVID-19 CVDs. Seizures complicated the hospital course in 16% of COVID-19 patients with CVD. The majority of the acute CVDs were ischemic (81%) in nature followed by hemorrhagic (22%). Acute CVD with COVID-19 resulted in average hospital stays greater than twice that of the control group (13 days in COVID-19, 5 days in control). Acute CVD with COVID-19 patients had worse clinical outcomes with 31% patient deaths and 6% discharged to hospice. In the control group, 6% of patients died. (4) Conclusions: Acute CVD associated with COVID-19 tends to be more complicated with unique and adverse clinical phenotype, longer hospital admissions, and worse clinical outcomes.

American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography.

This revision to the EEG Guidelines is an update incorporating the current electroencephalography technology and practice. It was previously published as Guideline 2. Similar to the prior guideline, it delineates the aspects of Guideline 1 that should be modified for neonates and young children. Recording conditions for photic stimulation and hyperventilation are revised to enhance the provocation of epileptiform discharges. Revisions recognize the difficulties involved in performing an EEG under sedation in young children. Recommended neonatal EEG montages are displayed for the reduced set of electrodes only since the montages in Guideline 3 should be used for a 21-electrode 10-20 system array. Neonatal documentation is updated to use current American Academy of Pediatrics term "postmenstrual age" rather than "conceptional age." Finally, because therapeutic hypothermia alters the prognostic value of neonatal EEG, the necessity of documenting the patient's temperature at the time of recording is emphasized.

American Clinical Neurophysiology Society Guideline 5: Minimum Technical Standards for Pediatric Electroencephalography.

This revision to the EEG Guidelines is an update incorporating the current electroencephalography technology and practice. It was previously published as Guideline 2. Similar to the prior guideline, it delineates the aspects of Guideline 1 that should be modified for neonates and young children. Recording conditions for photic stimulation and hyperventilation are revised to enhance the provocation of epileptiform discharges. Revisions recognize the difficulties involved in performing an EEG under sedation in young children. Recommended neonatal EEG montages are displayed for the reduced set of electrodes only since the montages in Guideline 3 should be used for a 21-electrode 10-20 system array. Neonatal documentation is updated to use current American Academy of Pediatrics term "postmenstrual age" rather than "conceptional age." Finally, because therapeutic hypothermia alters the prognostic value of neonatal EEG, the necessity of documenting the patient's temperature at the time of recording is emphasized.

Brain abscess from a peritonsillar abscess in an immunocompetent child: a case report and review of the literature.

A brain abscess is uncommon but potentially lethal. Common predisposing risk factors include congenital cyanotic heart disease, immunocompromised status, and the presence of septic foci. We describe a left frontal brain abscess accompanied by fever, headache, and weight loss for a 3-month period. The presumptive source of the brain abscess involved a left peritonsillar abscess. To the best of our knowledge, one similar case was reported in the literature in 1929. The specific signs of peritonsillar abscess in our patient included trismus, decreased phonation, and a muffled voice. The peritonsillar abscess was not clinically diagnosed, but incidentally detected on lower axial sections of cranial magnetic resonance imaging. Fever and trismus improved after surgical drainage of the peritonsillar abscess. The cerebral abscess was conservatively treated with intravenous antibiotics. The patient developed hydrocephalus as a sequela to the involvement of the basal meninges.

Lymphocytic hypophysitis in children: a novel presentation and literature review.

Lymphocytic hypophysitis, an autoimmune mediated chronic inflammation of the pituitary gland, is uncommon in children.(1) The usual presentation is with symptoms secondary to pressure from the enlargement of the gland itself and or impairment of pituitary hormones of varying degrees, in conjunction with a sellar mass.( 2,3) In 80% of cases, partial or panhypopituitarism is present with approximately 75% of cases having multiple hormonal deficiencies.(2) We report the case of a prepubertal female who presented with cyclical vomiting, as her initial symptom of lymphocytic hypophysitis which resolved promptly after pituitary biopsy. This case suggests that cyclical vomiting can be a symptom associated with lymphocytic hypophysitis. Therefore, it should be considered in the differential diagnosis of any child presenting with cyclical vomiting.

Infantile spasms associated with 5q14.3 deletion.

West syndrome consists of the triad of infantile spasms, characteristic electroencephalogram (EEG) pattern of hypsarrythmia and developmental delay. Infantile spasms generally occur in infants during the first year of life. There are different genetic mutations and syndromes associated with infantile spasms. We report the case of a white 14-month-old boy who developed infantile spasms and was found to have a 5q14.3 deletion.

Internal carotid artery agenesis and basilar artery aneurysm with third nerve palsy.

Agenesis of the internal carotid artery is an extremely rare vascular anomaly, occurring in less than 0.01% of the population. In most patients, this vascular anomaly is asymptomatic because the contralateral internal carotid artery, external carotid artery, or vertebrobasilar artery systems provide a sufficient arterial collateral blood supply. Carotid agenesis is evident in adults more often than in pediatric patients. We report on a 2-month-old baby with unilateral agenesis of the right internal carotid artery, basilar artery aneurysm, and right third cranial nerve palsy. These abnormalities were diagnosed incidentally using computed tomography, magnetic resonance imaging, and magnetic resonance angiogram as part of an evaluation for suspected encephalitis. According to our review of the literature, this report is the first to describe unilateral agenesis of the carotid artery presenting with ipsilateral oculomotor nerve palsy.

Childhood and teenage stroke.

OBJECTIVE: The purpose of this manuscript is to review the various etiologies and to discuss the therapeutic issues in childhood stroke. METHODS: A PubMed search of literature pertaining to childhood stroke was conducted from 1983 to 2008 using specific key search words pertinent to cerebrovascular disorders in childhood. RESULTS: The analysis of the multiple causes of childhood stroke including arterial ischemic strokes and cerebral venous thrombosis was presented. Current therapy and outcome data in childhood stroke are also discussed throughout the length of the article. CONCLUSIONS: With increasing vigilance among physicians and improved neuroimaging modalities, the diagnosis of childhood stroke is now made earlier, with increasing frequency and greater accuracy. However, larger and well-controlled studies regarding the optimal management of childhood stroke in terms of the use of both antithrombotic drugs and anticoagulation are still needed in addition to longitudinal follow-up studies of children with stroke.

Neonatal stroke.

OBJECTIVE: The purpose of this manuscript is to review various clinical and neuroimaging features of vascular pathology in the fetus and neonate. METHODS: A PubMed search of literature from 1978 to 2007 was performed using key search terms. Scientific papers pertinent to fetal and neonatal strokes were included and analysed. RESULTS: The analysis of the multiple causes of fetal and neonatal vascular compromise including maternal, placental, infectious, metabolic/prothrombotic, traumatic and cardiac factors, current therapy and outcome data, is presented and discussed throughout the length of the paper. CONCLUSION: With increasing vigilance among physicians and improved neuroimaging modalities, the diagnosis of neonatal stroke is now made earlier, with increasing frequency and greater accuracy.

Neonatal abstinence syndrome and cerebral infarction following maternal codeine use during pregnancy.

Neonatal withdrawal from maternal drugs and medications is common in some NICUs. Codeine-containing cough preparations given to pregnant mothers have been identified as a cause of neonatal abstinence syndrome. However, many women do not consider prescription cough syrups when asked about drug use. Maternal medication or illicit drug use has been identified as a cause of perinatal arterial stroke. Since codeine is an opiate with similar pharmacodynamic effects to morphine, it is reasonable to investigate if maternal codeine use has effects on the fetus that are similar to other opiates. The authors present 2 cases of newborn infants with perinatal arterial stroke that may have been associated with in utero exposure to codeine. Physicians should ask about maternal medication use, including codeine-containing cough preparations, when evaluating newborn infants with evidence of cerebral infarction.

An unusual complication of cancer treatment for acute lymphoblastic leukemia.

Childhood cancer is a leading cause of mortality in children less than 15 years of age, accounting for about 10.4 of total childhood deaths [Robinson LL: In: Pizzo PA, Polack DA (eds) Principles and Practice of Pediatric Oncology, 3rd edn. Lippincott--Raven, Philadelphia--NewYork, 1997, pp. 1-10.]. As more aggressive therapeutic regimens have been adopted and ostensibly cured patients are being followed for longer periods of time, it has become increasingly clear that the treatment of cancer can have significant late effects on the growing child, one of the more troublesome of which is the induction of secondary malignancy. We report an 11-year-old child who, as supported by both clinical course and neuroimaging studies, developed an unusual complication eight years after completing therapy for acute lymphoblastic leukemia, gliomatosis cerebri.

Megalencephalic leukoencephalopathy with subcortical cysts in two siblings owing to two novel mutations: case reports and review of the literature.

Megalencephalic leukoencephalopathy with subcortical cysts is a rare leukodystrophy characterized by macrocephaly and a slowly progressive clinical course marked by spasticity and cognitive decline. We report two full siblings with neuroimaging studies and clinical courses typical for megalencephalic leukoencephalopathy with subcortical cysts, in whom a pair of novel mutations in the MLC1 gene was identified. We review the current knowledge of this disorder in relation to the patients reported.

Developmental venous anomaly in association with neuromigrational anomalies.

This report describes a male neonate with unusual neuroradiologic findings at birth. The patient's subsequent clinical course and the evolution of his findings on serial magnetic resonance imaging and magnetic resonance venograms are consistent with a developmental venous anomaly. The case underscores the association of developmental venous anomalies with neuromigrational disorders such as polymicrogyria and nonschizencephalic clefts. It also emphasizes the importance of recognizing this problem for prognostication and treatment.

Herpes simplex encephalitis and radiotherapy.

The pathogenesis underlying the reactivation of latent herpes simplex virus remains undefined. This article presents the case of a 15-year-old male who developed herpes simplex encephalitis, as proven by a positive cerebrospinal fluid polymerase chain reaction and supported by magnetic resonance imaging findings during radiotherapy for pontine glioma. The temporal relation of radiotherapy to the occurrence of herpes simplex encephalitis suggests that cranial irradiation may play a role in the reactivation of latent herpes simplex virus. This finding suggests that herpes simplex encephalitis should be a part of the differential diagnosis of acute neurologic decline in patients undergoing cranial radiotherapy.